|
Verhoeven, Kristien; Claeys, Kristl G; Zuchner, Stephan et al. (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129:2093-102
|
|
Pericak-Vance, M A; Speer, M C; Lennon, F et al. (1997) Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1:89-93
|
|
Othmane, K B; Loeb, D; Hayworth-Hodgte, R et al. (1995) Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics 28:286-90
|
|
Burke, J R; Wingfield, M S; Lewis, K E et al. (1994) The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. Nat Genet 7:521-4
|
|
Denton, P H; Cullen, J B; Loeb, D et al. (1994) Partitioned pulsed-field gel electrophoresis-PCR (PPF-PCR): a new method for pulsed-field mapping for STS and microsatellites. Nucleic Acids Res 22:1776-7
|
|
Loeb, D B; Pericak-Vance, M A; Stajich, J M et al. (1994) A novel mutation in the von Hippel-Lindau gene. Hum Mol Genet 3:1423-4
|
|
Pericak-Vance, M A; Nunes, K J; Whisenant, E et al. (1993) Genetic mapping of dinucleotide repeat polymorphisms and von Hippel-Lindau disease on chromosome 3p25-26. J Med Genet 30:487-91
|
|
Ben Othmane, K; Middleton, L T; Loprest, L J et al. (1993) Localization of a gene (CMT2A) for autosomal dominant Charcot-Marie-Tooth disease type 2 to chromosome 1p and evidence of genetic heterogeneity. Genomics 17:370-5
|
|
Ben Othmane, K; Hentati, F; Lennon, F et al. (1993) Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 2:1625-8
|
